ClinVar Miner

List of variants reported as likely benign by Phosphorus, Inc.

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ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111 0.00229
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) rs113124819 0.00092
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=) rs368849358 0.00083
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met) rs201333104 0.00076
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=) rs751559376 0.00016
NM_000257.4(MYH7):c.957C>T (p.Thr319=) rs368699342 0.00014
NM_000312.4(PROC):c.678+10G>A rs776905824 0.00008
NM_001035.3(RYR2):c.848+8G>C rs373075790 0.00006
NM_000257.4(MYH7):c.1368C>T (p.Phe456=) rs766216871 0.00004
NM_001458.5(FLNC):c.4140C>T (p.Thr1380=) rs183668401 0.00004
NM_001458.5(FLNC):c.6864C>T (p.Val2288=) rs761269440 0.00004
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370 0.00004
NM_053025.4(MYLK):c.2631G>A (p.Val877=) rs371542306 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000256.3(MYBPC3):c.502G>A (p.Val168Met) rs569740494 0.00002
NM_000312.4(PROC):c.810G>C (p.Leu270=) rs371007615 0.00002
NM_005902.4(SMAD3):c.608-4G>A rs372064378 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000335.5(SCN5A):c.423C>T (p.Ile141=) rs1381613896 0.00001
NM_001035.3(RYR2):c.13449A>G (p.Lys4483=) rs1008224442 0.00001
NM_001035.3(RYR2):c.14469T>C (p.Ala4823=) rs1164805007 0.00001
NM_001035.3(RYR2):c.5298C>T (p.Pro1766=) rs570743152 0.00001
NM_001114753.3(ENG):c.817-5A>G rs765777426 0.00001
NM_001134363.3(RBM20):c.822T>C (p.Gly274=) rs1209966955 0.00001
NM_001458.5(FLNC):c.4134G>A (p.Ala1378=) rs200942470 0.00001
NM_001458.5(FLNC):c.5670G>A (p.Gly1890=) rs369881758 0.00001
NM_001458.5(FLNC):c.6123C>T (p.Ala2041=) rs769675272 0.00001
NM_001927.4(DES):c.559C>T (p.Leu187=) rs1314756792 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_002230.4(JUP):c.1506C>T (p.Ile502=) rs372963143 0.00001
NM_005159.5(ACTC1):c.81C>T (p.Asp27=) rs753552901 0.00001
NM_053025.4(MYLK):c.2100C>T (p.Ser700=) rs758518392 0.00001
NM_053025.4(MYLK):c.4710G>A (p.Ser1570=) rs778762375 0.00001
NM_000020.3(ACVRL1):c.1095C>T (p.Gly365=) rs367544123
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.3561A>G (p.Lys1187=) rs2103362720
NM_001134363.3(RBM20):c.3264C>T (p.Pro1088=) rs1844918076
NM_001927.4(DES):c.117T>G (p.Gly39=) rs796885355
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_004415.4(DSP):c.444A>G (p.Gln148=) rs2113659625
NM_004415.4(DSP):c.6576C>T (p.Ile2192=) rs1032400756
NM_024422.6(DSC2):c.1647C>T (p.Val549=) rs2144812470
NM_053025.4(MYLK):c.754+5C>T rs551530267
NM_170707.4(LMNA):c.435G>A (p.Glu145=) rs1228858436

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